title: Homocystinuria: the effect of pyridoxine supplementation on cultured skin fibroblasts.
abstract: Six skin fibroblast cultures, two derived from pyridoxine responsive homocystinurics, two from pyridoxine non-responsive homocystinurics, one from an obligate heterozygote and one from a normal control were grown for three passages in the presence of 9.7 mu mol/l, 243 mu mol/l and 486 mu mol/l of pyridoxine respectively. Cystathionine beta-synthase activity was stimulated in all four homocystinuric cell strains at 486 mu mol/l; aspartate and alanine aminotransferase activity was also increased, particularly in the pyridoxine responsive cell strains. There was, however, evidence of cytotoxicity at the pyridoxine levels of 243 mu mol/l and 486 mu mol/l.
mesh_terms: D001639:Bicarbonates / Q000378:metabolism; D002478:Cells, Cultured; D003541:Cystathionine beta-Synthase / Q000378:metabolism*; D005347:Fibroblasts / Q000187:drug effects / Q000378:metabolism; D005947:Glucose / Q000378:metabolism; D006579:Heterozygote; D006712:Homocystinuria / Q000378:metabolism*; D006801:Humans; D006836:Hydro-Lyases / Q000378:metabolism*; D007770:L-Lactate Dehydrogenase / Q000378:metabolism; D011736:Pyridoxine / Q000494:pharmacology*; D012867:Skin / Q000378:metabolism*
chemical_list: D001639:Bicarbonates; D007770:L-Lactate Dehydrogenase; D006836:Hydro-Lyases; D003541:Cystathionine beta-Synthase; D005947:Glucose; D011736:Pyridoxine